Propionic acidaemia: demographic characteristics and complications.

BACKGROUND

Propionic acidaemia is a global, metabolic disease, highly prevalent in Kingdom of Saudi Arabia. It may produce an array of complications which significantly deteriorate the patient's quality of life.

OBJECTIVES

To find out the demographic characteristics and complications of patients with propionic acidemia.

METHODS

The records of diagnosed cases of propionic acidaemia were reviewed, retrospectively.

RESULTS

Of 24 patients, 16 (67%) were male. Consanguineous parents were 16 (67%). Ten (42%) patients had diseased siblings. Mean age at diagnosis was 0.13±0.27 year. Twenty-two (92%) patients had early onset and 2 (8%) had late onset disease. Eighteen (75%) patients had developmental delay, 11 (46%) had hypotonia, 3 (12%) had hypertonia, 13 (54%) had hyperreflexia and 12 (50%) had seizures. Two (8%) children each, had intracranial haemorrhage, spastic quadriplegia, hemiplegia and 1 (4%) had paraplegia. Cerebral atrophy and nasogastric/gastrotomy, tube feeding, each was found in 6 (25%) patients. Under nutrition was revealed in 20 (83%), short stature in 18 (75%), rickets in 1 (4%) and pancreatitis in 2 (8%) patients. During metabolic crisis, cerebral oedema and pancytopenia each were found in 4 (17%), hypoglycaemia in 6 (25%), hyperglycaemia in 2 (8%), hyperammonaemia in all 24 (100%) and metabolic acidosis in 20 (83%) cases.

CONCLUSION

Propionic acidaemia is a rare hereditary disorder that has wide spectrum of neurological and other complications, which perhaps with early diagnosis and intervention may be preventable, more effectively.